ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2057_2058del (p.His686fs)

dbSNP: rs1713427542
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310823 SCV001500773 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
Invitae RCV001310823 SCV003525478 pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His631Argfs*3) in the OPA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA1 are known to be pathogenic (PMID: 11440988, 20157015, 20952381, 25012220). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with bilateral optic atrophy and decreased visual acuity (PMID: 19319978, 25205859, 34242285). ClinVar contains an entry for this variant (Variation ID: 1012714). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.